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Protein

Cytochrome b-245 light chain

Gene

CYBA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi94Iron (heme axial ligand)Sequence analysis1

GO - Molecular functioni

  • electron transfer activity Source: BHF-UCL
  • heme binding Source: InterPro
  • metal ion binding Source: UniProtKB-KW
  • protein heterodimerization activity Source: BHF-UCL
  • SH3 domain binding Source: BHF-UCL
  • superoxide-generating NADPH oxidase activity Source: Reactome

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processElectron transport, Transport
LigandHeme, Iron, Metal-binding, NADP

Enzyme and pathway databases

ReactomeiR-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-1236973 Cross-presentation of particulate exogenous antigens (phagosomes)
R-HSA-3299685 Detoxification of Reactive Oxygen Species
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-5668599 RHO GTPases Activate NADPH Oxidases
R-HSA-6798695 Neutrophil degranulation

Protein family/group databases

TCDBi5.B.1.1.1 the phagocyte (gp91(phox)) nadph oxidase family

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome b-245 light chain
Alternative name(s):
Cytochrome b(558) alpha chain
Cytochrome b558 subunit alpha
Neutrophil cytochrome b 22 kDa polypeptide
Superoxide-generating NADPH oxidase light chain subunit
p22 phagocyte B-cytochrome
p22-phox
Short name:
p22phox
Gene namesi
Name:CYBAImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000051523.10
HGNCiHGNC:2577 CYBA
MIMi608508 gene
neXtProtiNX_P13498

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Intramembranei91 – 127Add BLAST37

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.
See also OMIM:233690
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01275524G → R in ARCGD. 4 PublicationsCorresponds to variant dbSNP:rs28941476EnsemblClinVar.1
Natural variantiVAR_07186025G → D in ARCGD. 1 Publication1
Natural variantiVAR_06057625G → V in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs179363891EnsemblClinVar.1
Natural variantiVAR_06057752L → P in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs179363890EnsemblClinVar.1
Natural variantiVAR_06057853E → V in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs179363893EnsemblClinVar.1
Natural variantiVAR_00512390R → Q in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs104894513EnsemblClinVar.1
Natural variantiVAR_06057990R → W in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs179363892EnsemblClinVar.1
Natural variantiVAR_00512494H → R in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs104894510EnsemblClinVar.1
Natural variantiVAR_005125118S → R in ARCGD. 2 PublicationsCorresponds to variant dbSNP:rs104894514EnsemblClinVar.1
Natural variantiVAR_060580124A → V in ARCGD. 2 PublicationsCorresponds to variant dbSNP:rs179363894EnsemblClinVar.1
Natural variantiVAR_060581125A → T in ARCGD. 2 PublicationsCorresponds to variant dbSNP:rs119103269EnsemblClinVar.1
Natural variantiVAR_005126156P → Q in ARCGD. 2 PublicationsCorresponds to variant dbSNP:rs104894515EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi157P → Q: Loss of interaction with NOXO1. 1 Publication1

Keywords - Diseasei

Chronic granulomatous disease, Disease mutation

Organism-specific databases

DisGeNETi1535
GeneReviewsiCYBA
MalaCardsiCYBA
MIMi233690 phenotype
OpenTargetsiENSG00000051523
Orphaneti379 Chronic granulomatous disease
PharmGKBiPA27075

Chemistry databases

DrugBankiDB00514 Dextromethorphan

Polymorphism and mutation databases

BioMutaiCYBA
DMDMi311033459

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00001449072 – 195Cytochrome b-245 light chainAdd BLAST194

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei147PhosphothreonineCombined sources1 Publication1
Cross-linki149Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Modified residuei168PhosphoserineBy similarity1

Post-translational modificationi

The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.
Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding.By similarity
Ubiquitinated at Lys-149 likely by RNF145.By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP13498
MaxQBiP13498
PaxDbiP13498
PeptideAtlasiP13498
PRIDEiP13498

PTM databases

iPTMnetiP13498
PhosphoSitePlusiP13498

Expressioni

Gene expression databases

BgeeiENSG00000051523
CleanExiHS_CYBA
ExpressionAtlasiP13498 baseline and differential
GenevisibleiP13498 HS

Organism-specific databases

HPAiCAB009492

Interactioni

Subunit structurei

Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1 (via SH3 domain). Interacts with SH3PXD2A (By similarity). Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX3 and NOX4. Interacts with calprotectin (S100A8/9).By similarity5 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein heterodimerization activity Source: BHF-UCL
  • SH3 domain binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi107915, 13 interactors
DIPiDIP-37650N
IntActiP13498, 10 interactors
MINTiP13498
STRINGi9606.ENSP00000261623

Structurei

Secondary structure

1195
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi161 – 165Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WLPNMR-A149-168[»]
ProteinModelPortaliP13498
SMRiP13498
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP13498

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi133 – 189Pro-richAdd BLAST57

Sequence similaritiesi

Belongs to the p22phox family.Curated

Phylogenomic databases

eggNOGiENOG410IXYN Eukaryota
ENOG4111MI6 LUCA
GeneTreeiENSGT00390000002290
HOGENOMiHOG000001585
HOVERGENiHBG051278
InParanoidiP13498
KOiK08009
OMAiKIEWAMW
PhylomeDBiP13498
TreeFamiTF328901

Family and domain databases

InterProiView protein in InterPro
IPR007732 Cyt_b558_asu
PANTHERiPTHR15168 PTHR15168, 1 hit
PfamiView protein in Pfam
PF05038 Cytochrom_B558a, 1 hit
PIRSFiPIRSF019635 Cytochr_b558a, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P13498-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGQIEWAMWA NEQALASGLI LITGGIVATA GRFTQWYFGA YSIVAGVFVC
60 70 80 90 100
LLEYPRGKRK KGSTMERWGQ KYMTAVVKLF GPFTRNYYVR AVLHLLLSVP
110 120 130 140 150
AGFLLATILG TACLAIASGI YLLAAVRGEQ WTPIEPKPRE RPQIGGTIKQ
160 170 180 190
PPSNPPPRPP AEARKKPSEE EAAVAAGGPP GGPQVNPIPV TDEVV
Length:195
Mass (Da):21,013
Last modified:November 2, 2010 - v3
Checksum:i428427AD19398240
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01275524G → R in ARCGD. 4 PublicationsCorresponds to variant dbSNP:rs28941476EnsemblClinVar.1
Natural variantiVAR_07186025G → D in ARCGD. 1 Publication1
Natural variantiVAR_06057625G → V in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs179363891EnsemblClinVar.1
Natural variantiVAR_06057752L → P in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs179363890EnsemblClinVar.1
Natural variantiVAR_06057853E → V in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs179363893EnsemblClinVar.1
Natural variantiVAR_00512272Y → H3 PublicationsCorresponds to variant dbSNP:rs4673EnsemblClinVar.1
Natural variantiVAR_00512390R → Q in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs104894513EnsemblClinVar.1
Natural variantiVAR_06057990R → W in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs179363892EnsemblClinVar.1
Natural variantiVAR_00512494H → R in ARCGD. 1 PublicationCorresponds to variant dbSNP:rs104894510EnsemblClinVar.1
Natural variantiVAR_005125118S → R in ARCGD. 2 PublicationsCorresponds to variant dbSNP:rs104894514EnsemblClinVar.1
Natural variantiVAR_060580124A → V in ARCGD. 2 PublicationsCorresponds to variant dbSNP:rs179363894EnsemblClinVar.1
Natural variantiVAR_060581125A → T in ARCGD. 2 PublicationsCorresponds to variant dbSNP:rs119103269EnsemblClinVar.1
Natural variantiVAR_005126156P → Q in ARCGD. 2 PublicationsCorresponds to variant dbSNP:rs104894515EnsemblClinVar.1
Natural variantiVAR_060582171E → G1 PublicationCorresponds to variant dbSNP:rs72667005Ensembl.1
Natural variantiVAR_054801174V → A5 PublicationsCorresponds to variant dbSNP:rs1049254EnsemblClinVar.1
Natural variantiVAR_060583193E → D1 PublicationCorresponds to variant dbSNP:rs72667006Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M21186 mRNA Translation: AAA90925.1
BT006861 mRNA Translation: AAP35507.1
AC116552 Genomic DNA No translation available.
BC006465 mRNA Translation: AAH06465.1
AH002664 Genomic DNA Translation: AAA52134.1
CCDSiCCDS32504.1
PIRiA28201
RefSeqiNP_000092.2, NM_000101.3
UniGeneiHs.513803

Genome annotation databases

EnsembliENST00000261623; ENSP00000261623; ENSG00000051523
GeneIDi1535
KEGGihsa:1535
UCSCiuc002flb.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCY24A_HUMAN
AccessioniPrimary (citable) accession number: P13498
Secondary accession number(s): Q14090, Q9BR72
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: November 2, 2010
Last modified: May 23, 2018
This is version 186 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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